ArticleEuropean journal of pediatrics2014
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.
Article in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.Journal of endocrinological investigation · 2026Review
- The Purinergic Nature of Pseudoxanthoma Elasticum.Biology · 2024Review
- Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by RareJournal of personalized medicine · 2023Article
- Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study.Frontiers in cardiovascular medicine · 2023Article
- Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) withFrontiers in cardiovascular medicine · 2022Article
- Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach.Journal of multidisciplinary healthcare · 2022Review
- Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants.Frontiers in genetics · 2021Article
- Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.Current osteoporosis reports · 2020Review
- [Persistent hypertension for two months in a preterm infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Bisphosphonate therapy in an infant with generalized arterial calcification with an ABCC6 mutation.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledGeneralized arterial calcification of infancy (GACI, OMIM 208000) and pseudoxanthoma elasticum (PXE, OMIM 264800) are rare autosomal-recessive disorders which represent the opposite ends of the same spectrum of pathologies characterized by progressive ectopic calcification and degeneration of elastic fibers at skin, eyes, and cardiovascular level. Patients with GACI suffer from hypertension, severe myocardial ischemia, and congestive heart failure and often die within 6 months of life. On the other end, PXE is associated with considerable morbidity, rarely with mortality. GACI and PXE are associated with biallelic mutations in ENPP1 and in ABCC6. We report the case of a 4-year-old Italian child submitted to heart transplant, at 18 months old, for end-stage heart failure due to extensive myocardial infarction of the left ventricle and diffuse coronary calcifications. The histology showed generalized arterial calcification and the molecular analysis identified mutations in ABCC6. Two years after transplantation, the child shows good clinical conditions and growth with no recurrence of calcium deposits in the heart.
conclusionBisphosphonate therapy at present is the treatment of choice for systemic arterial involvement in GACI, and heart transplant has proven to be the definitive treatment in case with extensive myocardial infarction, as in our. Molecular analysis is mandatory for a complete diagnosis and familial counseling.
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